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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UMOD Gene

protein-coding   GIFtS: 63
GCID: GC16M020344

Uromodulin

(Previous names: uromodulin (uromucoid, Tamm-Horsfall glycoprotein))
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
uromodulin1 2     HNFJ12 5
uromucoid1 2     MCKD22 5
THP2 3     Tamm-Horsfall Glycoprotein1
Tamm-Horsfall Urinary Glycoprotein2 3     Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein)1
ADMCKD22 5     HNFJ2
FJHN2 5     THGP2

External Ids:    HGNC: 125591   Entrez Gene: 73692   Ensembl: ENSG000001693447   OMIM: 1918455   UniProtKB: P079113   

Export aliases for UMOD gene to outside databases

Previous GC identifers: GC16P019829 GC16M019774 GC16M020271 GC16M020310 GC16M020251 GC16M018883


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UMOD Gene:
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions.
Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl
phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This
protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein
in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this
gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney
disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN).
Alternative splicing of this gene results in multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for UMOD Gene: 
UMOD (uromodulin) is a protein-coding gene. Diseases associated with UMOD include familial juvenile hyperuricemic nephropathy, and cystic kidney. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is GP2.

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
Function: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the
thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like
structure providing the water barrier permeability. May serve as a receptor for binding and endocytosis for
cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial
Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may
contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary
tract infection and modulates formation of supersaturated salts and their crystals

Gene Wiki entry for UMOD (Tamm-Horsfall protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UMOD gene promoter:
         AhR   Nkx3-1   Nkx3-1 v4   Brachyury   XBP-1   Nkx3-1 v1   Nkx3-1 v2   HFH-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUMOD promoter sequence
   Search SABiosciences Chromatin IP Primers for UMOD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UMOD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p12.3

UMOD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UMOD gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M020344:  view genomic region     (about GC identifiers)

Start:
20,344,373 bp from pter      End:
20,367,623 bp from pter
Size:
23,251 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911 (See protein sequence)
Recommended Name: Uromodulin precursor  
Size: 640 amino acids; 69761 Da
Subcellular location: Apical cell membrane; Lipid-anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor,
GPI-anchor. Cell projection, cilium membrane. Note=Only a small fraction is sort to the basolateral pole of
tubular epithelial cells compared to apical localization. Secreted into urine after cleavage. Colocalized with
NPHP1 and KIF3A
Subcellular location: Uromodulin, secreted form: Secreted
Miscellaneous: A specific, but as yet unidentified, protease(s) cleaves off and releases UMOD into urine
Secondary accessions: B3KP48 B3KRN9 Q540J6 Q6ZS84 Q8IYG0
Alternative splicing: 4 isoforms:  P07911-1   P07911-2   P07911-3   P07911-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UMOD: NX_P07911

Explore proteomics data for UMOD at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated. N-glycan heterogeneity at Asn-232: Hex7HexNAc6 (major) and dHex1Hex7HexNAc6 (minor); at Asn-322:
    dHex1Hex6HexNAc5 (minor), dHex1Hex7HexNAc6 (major) and dHex1Hex8HexNAc7 (minor); at Asn-396: Hex6HexNAc5 (major),
    dHex1Hex6HexNAc5 (minor) and Hex7HexNAc6 (minor)
  • UniProtKB: Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found
    into urine
  • View neXtProt modification sites for NX_P07911

  • UMOD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UMOD Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001008390.1  NP_001265543.1  NP_003352.2  

    ENSEMBL proteins: 
     ENSP00000379438   ENSP00000379442   ENSP00000460548   ENSP00000460374   ENSP00000458939  
     ENSP00000459738   ENSP00000460845   ENSP00000461641   ENSP00000459724   ENSP00000461120  
     ENSP00000458695   ENSP00000416346   ENSP00000306279   ENSP00000379446  

    Human Recombinant Protein Products for UMOD: 
    EMD Millipore Purified and/or Recombinant UMOD Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for UMOD
    Browse OriGene Protein Over-expression Lysates
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    GenScript Custom Purified and Recombinant Proteins Services for UMOD
    Novus Biologicals UMOD Protein
    Novus Biologicals UMOD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for UMOD
    Cloud-Clone Corp. Proteins for UMOD 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0016323basolateral plasma membrane IDA7028707

    UMOD for ontologies           About GeneDecksing



    UMOD Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of UMOD
    R&D Systems Antibodies for UMOD (Uromodulin)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for UMOD
    GenScript Custom Superior Antibodies Services for UMOD
    Novus Biologicals UMOD Antibodies
    Abcam antibodies for UMOD
    Cloud-Clone Corp. Antibodies for UMOD 
    ThermoFisher Antibodies for UMOD
    LSBio Antibodies in human, mouse, rat for UMOD 

    Assay Products for UMOD: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UMOD
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UMOD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UMOD 
    Cloud-Clone Corp. CLIAs for UMOD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     IPR017977 ZP_dom_CS
     IPR001881 EGF-like_Ca-bd
     IPR000742 EG-like_dom
     IPR009030 Growth_fac_rcpt_N_dom
     IPR001507 ZP_dom

    Graphical View of Domain Structure for InterPro Entry P07911

    ProtoNet protein and cluster: P07911

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001507 Endoglin/CD105 antigen
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
    Domain: The ZP domain is involved in the polymerization of the protein to promote the formation of complex
    gel-like structure
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 1 ZP domain


    UMOD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UROM_HUMAN, P07911
    Function: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the
    thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like
    structure providing the water barrier permeability. May serve as a receptor for binding and endocytosis for
    cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial
    Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may
    contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary
    tract infection and modulates formation of supersaturated salts and their crystals

         Genatlas biochemistry entry for UMOD:
    uromodulin,uromucoid,expressed in kidney,homolog to GP2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    UMOD for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UMOD:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Umod):
     adipose tissue  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     other  renal/urinary system  skeleton 

    UMOD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for UMOD: Umodtm1Xrw Umodtm1Kuma

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UMOD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UMOD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UMOD 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UMOD 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UMOD
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate UMOD:
    hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidUMOD 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for UMOD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UMOD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UMOD
    Sirion Biotech Customized adenovirus for overexpression of UMOD

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for UMOD (see all 11)
    OriGene ORF clones in mouse, rat for UMOD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): UMOD (NM_001008389)
    Sino Biological Human cDNA Clone for UMOD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD
    Sirion Biotech Customized lentivirus for stable overexpression of UMOD 
                         Customized lentivirus expression plasmids for stable overexpression of UMOD 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for UMOD
    Search LifeMap BioReagents cell lines for UMOD
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UMOD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Selected targets of HNF1
    Selected targets of HNF1

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for UMOD
        Selected targets of HNF1





    UMOD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UMOD

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for UMOD (P079113 ENSP000003062794) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LTAP013743, ENSP000004034954I2D: score=3 STRING: ENSP00000403495
    ENSG00000230279P013743I2D: score=3 
    ENSG00000231408P013743I2D: score=3 
    MMP8P228943, ENSP000002368264I2D: score=1 STRING: ENSP00000236826
    IL1BP015843I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006968cellular defense response TAS2409603
    GO:0007588excretion IEA--
    GO:0008285negative regulation of cell proliferation TAS2409603
    GO:0010033response to organic substance IEA--
    GO:0048878chemical homeostasis IEA--

    UMOD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UMOD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UMOD (UROM)

    10/29 Novoseek inferred chemical compound relationships for UMOD gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thps 90.1 8 17345077 (4), 7783702 (3)
    tamm 85.4 8 12900848 (2), 12270772 (1), 17065110 (1), 7490460 (1) (see all 6)
    calcium oxalate 82 55 7783702 (4), 10096372 (4), 12424489 (3), 15855216 (3) (see all 23)
    uric acid 64.5 15 16861244 (4), 11007825 (1), 12629136 (1), 17629875 (1) (see all 10)
    sialic acid 60.7 25 9352687 (4), 10460894 (3), 15637470 (2), 7664879 (1) (see all 13)
    oxalate 50.4 3 15327412 (1), 11007825 (1), 17629875 (1)
    creatinine 42.2 15 1488322 (1), 10572998 (1), 17616355 (1), 9650124 (1) (see all 10)
    citrate 38.4 20 7771027 (4), 10096372 (3), 8285211 (2), 17629875 (2) (see all 9)
    monosaccharide 37.8 3 10815984 (1), 10424459 (1)
    slex 36.7 3 10770931 (3)

    Search CenterWatch for drugs/clinical trials and news about UMOD / UROM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UMOD gene (3 alternative transcripts): 
    NM_001008389.2  NM_001278614.1  NM_003361.3  

    Unigene Cluster for UMOD:

    Uromodulin
    Hs.654425  [show with all ESTs]
    Unigene Representative Sequence: AK091961
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396134(uc002dhb.3) ENST00000396138(uc002dgz.3) ENST00000570689
    ENST00000570331 ENST00000573567 ENST00000571174 ENST00000577168 ENST00000574195
    ENST00000576688 ENST00000570757 ENST00000576546 ENST00000570972 ENST00000424589
    ENST00000302509(uc002dha.3) ENST00000396142
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UMOD
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate UMOD:
    hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidUMOD 3' UTR sequence
    Inhib. RNA
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UMOD
    Clone
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    GenScript: all cDNA clones in your preferred vector (see first 1): UMOD (NM_001008389  NM_003361)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UMOD
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UMOD

    Additional mRNA sequence: 

    AK055722.1 AK091961.1 AK096043.1 AK127643.1 AK127648.1 BC035975.1 M15881.1 M17778.1 

    24/37 DOTS entries (see all 37):

    DT.120685796  DT.120685823  DT.95264795  DT.100020311  DT.107035  DT.120685818  DT.120685769  DT.120685856 
    DT.120685831  DT.120685825  DT.102827271  DT.120685783  DT.120685802  DT.101981138  DT.120685846  DT.100020313 
    DT.100754194  DT.120685844  DT.120685826  DT.70100028  DT.120685837  DT.120685810  DT.120685835  DT.120685843 

    24/103 AceView cDNA sequences (see all 103):

    M15881 BG430266 AI733047 BG428950 AI934416 AI700894 BX089145 AI768450 
    AI284347 BE466514 BE463493 BX109279 BE501786 AK096043 AI791538 AI791536 
    AW051962 AI640530 BG401615 AI625807 BG400435 AK091961 AI928388 AI566001 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for UMOD (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8 ^ 9 ^ 10 ^
    SP1:                                                                          -                                                                                 
    SP2:                                                              -     -     -                 -     -     -     -     -     -     -                           
    SP3:                                                              -     -     -                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                            -                                                                                                               

    ExUns: 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:  -                                 
    SP2:  -                                 
    SP3:  -                                 
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for UMOD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UMOD expression in normal human tissues (normalized intensities)      UMOD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGTTCAG
    UMOD Expression
    About this image


    UMOD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 15 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
             Parietal epithelial cells (PEC)
             Renal-like cells ( Derivation of renal-like cells from mouse embryonic stem cells...
             kidney ; cells in tubules   
             visceral organ/metanephros/renal medulla   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 7 entries
             visceral organ   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Colon (Gastrointestinal Tract)
             colon ; glandular cells   

    See UMOD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UMOD

    SOURCE GeneReport for Unigene cluster: Hs.654425

    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
    Tissue specificity: Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick
    ascending limb of Henle's loop (TALH) and of distal convoluted tubule lumen. Most abundant protein in normal
    urine

        SABiosciences Expression via Pathway-Focused PCR Array including UMOD: 
              Terminal Differentiation Markers in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for UMOD gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Umod1 , 5 uromodulin1, 5 79.31(n)1
    77.12(a)1
      7 (63.88 cM)5
    222421  NM_009470.41  NP_033496.11 
     1194628665 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    51(a)
    1 → many
    GL343621.1(77126-92542)


    ENSEMBL Gene Tree for UMOD (if available)
    TreeFam Gene Tree for UMOD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UMOD gene
    GP22  OIT32  
    13 SIMAP similar genes for UMOD using alignment to 11 protein entries:     UROM_HUMAN (see all proteins):
    GP2    DKFZp779K0533    UMODL1    FBN3    NELL2    SNED1
    LTBP1    FBLN2    PROS1    NOTCH2    MEGF6    CD97
    LTBP3

    UMOD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/646 SNPs in UMOD are shown (see all 646)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0259584
    Medullary cystic kidney disease 2 (MCKD2)4--see VAR_0259582 C W mis40--------
    VAR_0259594
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259592 C Y mis40--------
    VAR_0259524
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259522 C R mis40--------
    VAR_0259574
    Medullary cystic kidney disease 2 (MCKD2)4--see VAR_0259572 T K mis40--------
    VAR_0259604
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259602 C G mis40--------
    VAR_0259564
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259562 C Y mis40--------
    VAR_0259504
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259502 C Y mis40--------
    VAR_0259614
    Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)4--see VAR_0259612 C R mis40--------
    VAR_0259534
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259532 N S mis40--------
    rs289345831,2,4
    CFamilial juvenile hyperuricemic nephropathy 1 (HNFJ1)4 pathogenic120363175(-) AGACCC/TGCGTG 4 R C mis1 ese30--------

    HapMap Linkage Disequilibrium report for UMOD (20344373 - 20367623 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UMOD:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1759CNV Insertion18451855
    nsv436835CNV Insertion17901297


    Human Gene Mutation Database (HGMD): UMOD
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for UMOD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191845   
    OMIM disorders: 162000  603860  609886  
    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
  • Familial juvenile hyperuricemic nephropathy 1 (HNFJ1) [MIM:162000]: A renal disease characterized by
    juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with
    interstitial pathological changes resulting in fibrosis. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]: A form of tubulointerstitial nephropathy
    characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of
    impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]: A renal
    disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due
    to low fractional excretion of uric acid and severe impairment of urine concentrating ability. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 20/46 diseases for UMOD (see all 46):    About MalaCards
    familial juvenile hyperuricemic nephropathy    cystic kidney    hyperuricemia    umod-associated kidney disease
    bacteriuria    familial juvenile hyperuricaemic nephropathy    chronic pyelonephritis    pyelonephritis
    kidney disease    gout    cystitis    urinary tract obstruction
    vesicoureteral reflux    end stage renal failure    fibrous dysplasia    nephrolithiasis
    nephrocalcinosis    renal dysplasia    fabry disease    newcastle disease

    3 diseases from the University of Copenhagen DISEASES database for UMOD:
    Hyperuricemia     Gout     Kidney disease

    UMOD for disorders           About GeneDecksing

    10/45 Novoseek inferred disease relationships for UMOD gene (see all 45)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperuricemic nephropathy, familial juvenile 97.6 35 15983957 (2), 18409514 (1), 12900848 (1), 19203555 (1) (see all 20)
    medullary cystic kidney 95.7 25 15983957 (2), 11730273 (2), 12900848 (1), 12839032 (1) (see all 13)
    cystic kidney disease 87.4 23 15983957 (2), 11730273 (2), 20172860 (2), 12900848 (1) (see all 11)
    hyperuricaemic nephropathy 85.5 8 15589826 (2), 19465746 (2), 15575003 (1), 18651238 (1)
    hyperuricemia 84.7 16 20151160 (2), 18409531 (2), 16861244 (1), 17065110 (1) (see all 11)
    gout 76.2 6 20151160 (1), 17065110 (1), 19203555 (1), 16582687 (1)
    renal stone 71.3 19 11007825 (2), 19145410 (2), 9352687 (1), 2008908 (1) (see all 12)
    renal disease 66.6 58 8558842 (3), 20075439 (2), 11953407 (2), 15983957 (2) (see all 30)
    tubulointerstitial nephritis 57.7 1 14520616 (1)
    nephritis interstitial 57 3 10645146 (1), 10436264 (1), 15266028 (1)

    GeneTests: UMOD
    GeneReviews: UMOD
    Genetic Association Database (GAD): UMOD
    Human Genome Epidemiology (HuGE) Navigator: UMOD (12 documents)

    Export disorders for UMOD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UMOD gene, integrated from 9 sources (see all 266):
    (articles sorted by number of sources associating them with UMOD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Uromodulin is expressed in renal primary cilia and UM OD mutations result in decreased ciliary uromodulin expression. (PubMed id 20172860)1, 2, 9 Zaucke F....Wolf M.T. (2010)
    2. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. (PubMed id 14531790)1, 2, 9 Wolf M.T.F.... Hildebrandt F. (2003)
    3. Uromodulin levels associate with a common UMOD varian t and risk for incident CKD. (PubMed id 19959715)1, 4, 9 KAPttgen A....Fox C.S. (2010)
    4. Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. (PubMed id 2249987)1, 2, 9 Rindler M.J.... Peraldi M.-N. (1990)
    5. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). (PubMed id 18846391)1, 4, 9 Wolf M.T....Hildebrandt F. (2008)
    6. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. (PubMed id 14570709)1, 2, 9 Rampoldi L.... Casari G. (2003)
    7. Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. (PubMed id 12900848)1, 2, 9 Bleyer A.J.... Hart T.C. (2003)
    8. UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (PubMed id 12629136)1, 2, 9 Turner J.J.O.... Thakker R.V. (2003)
    9. Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass. (PubMed id 22087292)1, 4 Sun L....Deng H.W. (2011)
    10. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4 KAPttgen A....Fox C.S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7369 HGNC: 12559 AceView: UMOD Ensembl:ENSG00000169344 euGenes: HUgn7369
    ECgene: UMOD H-InvDB: UMOD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UMOD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UMOD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UMOD gene:
    Search GeneIP for patents involving UMOD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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